The 20 Best Spondyloepimetaphyseal Dysplasia Strudwick Type Doctors Near Me

Dr. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Elite provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Rhizomelic Syndrome, Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover is board certified in American Board Of Medical Genetics And Genomics.

Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is rated as an Elite provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy. Dr. De Macena Sobreira is board certified in American Board Of Medical Genetics And Genomics.

Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.

Debora Bertola practices practicing medicine in Sao Paulo, Brazil. Ms. Bertola is rated as an Elite expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 48 other conditions, according to our data. Her clinical expertise encompasses RASopathies, Noonan Syndrome, Acrofacial Dysostosis Catania Type, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Osteotomy.

Wei Wang is a Psychiatrist practicing medicine in Englewood, New Jersey. Dr. Wang is rated as a Distinguished provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 87 other conditions, according to our data. Her clinical expertise encompasses Gallbladder Disease, Dementia, Ocular Hypertension (OHT), Endoscopy, and Bone Marrow Aspiration. Dr. Wang is currently accepting new patients.

Dr. Jeffery Campbell has been a pediatric neurosurgeon at Nemours for 20 years. His most notable work is with kids that have skeletal dysplasia and he acts as the neurosurgical component of our larger skeletal dysplasia program at Nemours. Most of his research has been in dwarfism and osteogenesis imperfecta (OI). Prior to Nemours, he worked in a private practice in Charleston, SC. When I was in medical school, I knew that I wanted to do something “brain-related.” During my fourth year, I did a neurology rotation and thoroughly enjoyed the immediate feedback of surgery. I split my residency time between pediatric and adult hospitals, but quickly realized that I loved working with kids. I was able to see kids get better and found the impact I had on them gratifying. My goal as a doctor is to have a long-term impact on someone’s life and treating kids was my path to do just that. I am passionate about providing the best possible care for all children. I enjoy being on the cutting edge of treating rare problems on the skeletal dysplasia spectrum and I take pride in people traveling to Nemours from all over the country to seek such treatment. I love that I can do things that can’t be done anywhere else. I believe that health care should be a team sport. I always advocate for team approaches, especially with complicated cases. I actively create multidisciplinary teams for many of my patients to give them the very best care. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 80 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Increased Head Circumference, Syringomyelia, Bone Graft, and Adenoidectomy. Dr. Campbell is board certified in American Board Of Neurological Surgery.

Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging  Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Weissenbacher-Zweymuller Syndrome, Kniest Dysplasia, and Spondyloepiphyseal Dysplasia. Dr. Harty is board certified in American Board Of Radiology.

Michael Moore is a Pediatric Radiologist and a Radiologist practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 22 years. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 86 other conditions, according to our data. His clinical expertise encompasses Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Scoliosis, and Hypochondroplasia. Dr. Moore is board certified in American Board Of Radiology.

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita. Dr. Valle is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Dr. Robert A. Heinle is a pediatric pulmonologist and sleep physician. He's director of the hospital's Pediatric Pulmonary Fellowship, medical director of the Pulmonary Function Laboratory and co-director of the neuromuscular clinic. He's also assistant professor of both internal medicine and pediatrics at Sidney Kimmel Medical College. I grew up in a big family. There were always kids around, so I had a lot of practice interacting with, and looking out for, children who were younger than me. As a result, I learned early on that I'm good with kids and enjoy working with them. Growing up, I decided that becoming an aerospace engineer would be fun and exciting, so I actually became one and worked at NASA. But, after spending all day, every day staring at computer screens and not interacting with people, I began to rethink my decision. It occurred to me that the perfect combination of my affinity for science, math and physics, and love for working with children would be to become a pediatrician. So, I went back to school. I'm more than glad I did. I love being a pediatrician. I think I appreciate even more the opportunity of working with kids and helping them because of the extra work and commitment it took to go back to school to become a doctor. I love helping children get better if they are sick, and watching them develop from babies to toddlers, then to being big kids and teens. I love working with their families, too. I absolutely love to teach. I teach my own children, and I thoroughly enjoy educating the next generation of physicians as the program director for our hospital's pediatric pulmonary fellowship and as an assistant professor of internal medicine and pediatrics at the Sidney Kimmel Medical College at Thomas Jefferson University. I assist in the education of our hospital's general pediatrics residents and medical students. I also like to help educate my patients and their families about the medical conditions they're facing and about their treatments and home care. I feel that the best tool in health care is, very often, education. I really want to make sure that each patient and family is taken care of — completely. So I make sure that I spend the time each one needs in our appointments together. For this reason, I may run a little late, especially as the day goes on. I turn that into a promise that I make to all of my patients and families: I may not be on time for our appointment, but I will always give you all the time that you need. In addition to making sure each patient's medicine and treatment is squared away, it’s my goal to make sure each patient — and their family — leaves with a better understanding of asthma or whatever pulmonary condition they’re dealing with. Dr. Heinle is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Subglottic Stenosis, Duchenne Muscular Dystrophy, Hypochondroplasia, Osteotomy, and Adenoidectomy. Dr. Heinle is board certified in American Board Of Pediatrics.

Dieter Reinhardt practices practicing medicine in Montreal, Canada. Mr. Reinhardt is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Marfan Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, GEMSS Syndrome, and Weill-Marchesani Syndrome.

Philippe Campeau practices practicing medicine in Montreal, Canada. Mr. Campeau is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 67 other conditions, according to our data. His clinical expertise encompasses DOOR Syndrome, Argininosuccinic Aciduria, Micrognathia, and Craniofacial-Deafness-Hand Syndrome.

Neha Dinesh practices practicing medicine in Montreal, Canada. Ms. Dinesh is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Schwartz-Jampel Syndrome, Chondrodystrophy, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

Deborah Krakow is a Medical Genetics specialist and an Obstetrics and Gynecologist practicing medicine in Los Angeles, California. Dr. Krakow is rated as a Distinguished provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Osteogenesis Imperfecta, Chondrodystrophy, Acromicric Dysplasia, and Spondyloepimetaphyseal Dysplasia Strudwick Type.

Valerie Daire-Cormier practices practicing medicine in Paris, France. Ms. Daire-Cormier is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 107 other conditions, according to our data. Her clinical expertise encompasses Myhre Syndrome, Polydactyly, Achondroplasia, Brachydactyly Mononen Type, and Adenoidectomy.

Raymond Handford-Boot practices practicing medicine in Manchester, United Kingdom. Mr. Handford-Boot is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Metaphyseal Chondrodysplasia Schmid Type, Spondyloepimetaphyseal Dysplasia Strudwick Type, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

Andrea Furga-Superti practices practicing medicine in Lausanne, Switzerland. Ms. Furga-Superti is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. She is also highly rated in 39 other conditions, according to our data. Her clinical expertise encompasses Diastrophic Dysplasia, Achondrogenesis, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Campailla Martinelli Type.

Outi Makitie practices practicing medicine in Stockholm, Sweden. Makitie is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. They are also highly rated in 49 other conditions, according to our data. Their clinical expertise encompasses Cartilage-Hair Hypoplasia, Autoimmune Polyglandular Syndrome Type 2, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), Osteogenesis Imperfecta, and Hormone Replacement Therapy (HRT).

Marcus Conrad practices practicing medicine in Neuherberg, Germany. Mr. Conrad is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Necrosis, Acute Tubular Necrosis, and Hepatic Ischemia.

Nissan Baratang practices practicing medicine in Montreal, Canada. Baratang is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. They are also highly rated in 6 other conditions, according to our data. Their clinical expertise encompasses Glucose Phosphate Isomerase Deficiency, Spondyloepimetaphyseal Dysplasia Strudwick Type, Spondyloepiphyseal Dysplasia Congenita, and Hypotonia.